Orphanet journal of rare diseases. Latest Research · PhysioKeys

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Showing 8 articles

Orphanet journal of rare diseases17/10/2025
A qualitative, mixed-method approach to reaching consensus on function, fatigue, and fatigability outcomes in teens and adults living with spinal muscular atrophy.
Orphanet journal of rare diseases09/04/2025
Consensus-based recommendations for the rehabilitation of children with arthrogryposis multiplex congenita: an integrated knowledge translation approach.
Orphanet journal of rare diseases16/03/2025
Taking care of patients with recessive dystrophic epidermolysis bullosa from birth to adulthood: a multidisciplinary Italian Delphi consensus.
Orphanet journal of rare diseases18/01/2024
A position statement on the post gene-therapy rehabilitation of aromatic I-amino acid decarboxylase deficiency patients.
Orphanet journal of rare diseases30/09/2021
Physiotherapy for epidermolysis bullosa: clinical practice guidelines.
Orphanet journal of rare diseases10/04/2020
The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendations.
Orphanet journal of rare diseases07/06/2019
Occupational therapy for epidermolysis bullosa: clinical practice guidelines.
Orphanet journal of rare diseases10/09/2018
Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta.